This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may exhibit unique activities and specificities. These proteins may play a role in skin and hair morphogenesis, as well as anti-inflammatory and antimicrobial protection of mucous epithelia. Mutations in this gene may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. This gene is present in a gene cluster on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
Transcription factors with Perturb-seq knockdown data for SPINK5. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = SPINK5 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.
| TF | Mean coef | Binding | Outlier | TF→Gene link |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of SPINK5, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.
| Accessibility | Element | Dist. to TSS | Link type | TFs |
|---|---|---|---|---|
| chr5:147,868,433–147,870,551 | 221.8 kb | Distal (>10kb) Multiome | 335 | |
| chr5:147,873,930–147,875,597 | 216.4 kb | Distal (>10kb) Multiome | 295 | |
| chr5:148,005,921–148,006,546 | 84.6 kb | Distal (>10kb) Multiome | 86 | |
| chr5:148,084,394–148,084,591 | 6.3 kb | Proximal (<10kb) | 41 | |
| chr5:148,090,303–148,091,251 | 107 bp | At TSS Multiome | 206 | |
| chr5:148,383,493–148,384,592 | 293.0 kb | Distal (>10kb) Multiome | 873 |
Genomic view of the SPINK5 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.